Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.900 1.000 15 2006 2019
dbSNP: rs558269137
rs558269137
8 0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 0.700 1.000 1 2006 2006
dbSNP: rs11584340
rs11584340
5 0.827 0.200 1 152313454 missense variant G/A snv 0.27 0.19 0.040 1.000 4 2011 2015
dbSNP: rs138726443
rs138726443
7 0.790 0.200 1 152307547 stop gained G/A;C;T snv 2.8E-03; 4.0E-06; 1.6E-05 0.040 1.000 4 2009 2020
dbSNP: rs150597413
rs150597413
5 0.827 0.160 1 152305146 stop gained G/A;C;T snv 3.6E-05; 4.0E-06; 1.5E-03 0.030 1.000 3 2010 2015
dbSNP: rs121909626
rs121909626
4 0.882 0.120 1 152307225 stop gained G/C;T snv 2.0E-05 0.020 1.000 2 2007 2008
dbSNP: rs146466242
rs146466242
4 0.851 0.120 1 152302822 stop gained T/A;C snv 1.4E-03; 8.0E-06 0.020 1.000 2 2015 2017
dbSNP: rs113136594
rs113136594
2 0.925 0.120 1 152313436 missense variant G/A;C;T snv 6.0E-04; 4.0E-06; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs115746363
rs115746363
3 0.882 0.120 1 152312410 stop gained G/A;C snv 6.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs1443712053
rs1443712053
2 0.925 0.120 1 152310672 stop gained G/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs145627745
rs145627745
2 0.925 0.120 1 152313145 missense variant T/A snv 7.8E-03 8.0E-03 0.010 1.000 1 2017 2017
dbSNP: rs149484917
rs149484917
3 0.882 0.120 1 152304939 stop gained G/C;T snv 4.7E-04; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs180768115
rs180768115
2 0.925 0.120 1 152310342 stop gained G/C;T snv 8.0E-06; 1.7E-04 0.010 1.000 1 2015 2015
dbSNP: rs560912365
rs560912365
2 0.925 0.120 1 152309046 stop gained C/G;T snv 4.0E-06; 2.2E-04 0.010 1.000 1 2015 2015
dbSNP: rs748135905
rs748135905
2 0.925 0.120 1 152309045 stop gained C/A;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs761212672
rs761212672
3 0.882 0.120 1 152304999 stop gained G/T snv 3.2E-05 0.010 1.000 1 2015 2015